PRRT2基因相关发作性疾病的临床特点与预后(附1例报告)

The Clinical and prognosis of PRRT2 gene-related paroxysmal disorders(Report of 1 case)

目的探讨PRRT2基因相关发作性疾病的临床特点与预后。方法回顾性分析1例经基因诊断明确的良性婴儿癫痫的临床资料。结果本例患儿临床表现为反复抽搐,丛集性发作,查体无明显异常。基因检查示PRRT2移码变异。患儿母亲既往有发作性运动诱发运动障碍史,舅舅及表姐幼时有多次抽搐史。患儿口服奥卡西平后未再抽搐。结论 PRRT2基因相关发作性疾病以自限性婴儿期癫痫、发作性运动诱发的运动障碍为临床表现。明确诊断需进行基因检查。本病治疗以控制癫痫为主,预后良好。

Objective To investigate the clinical features and prognosis of PRRT2-related paroxysmal disorders.Methods Retrospected clinical data of one cases of benign infantile epilepsy diagnosed by gene diagnosis.Results The clinical manifestations of this Children were recurrent convulsions,cluster seizures,and no obvious abnormalities in physical examination.Genetic examination showed mutation of PRRT2 frameshift.Her mother had a history of paroxysmal motor-induced dyskinesia,and her uncle and cousin had a history of convulsions when they were young.The patient did not convulse after oral oxcarbazepine.Conclusions PRRT2 gene-related paroxysmal diseases are characterized by self-limited infantile epilepsy and paroxysmal motor-induced dyskinesia. Genetic diagnosis is needed for definitive diagnosis.The main treatment of this disease is to control epilepsy,and the prognosis is good.